Kearns-Sayre syndrome

Definition:

Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.

References:

[1]. Monika Obara-Moszynska, et al. A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. BMC Pediatr. 2013 Feb 20;13:27. [Content Brief]

[2]. R G Boles, et al. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr. 1998 Aug;157(8):643-7. [Content Brief]

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